129 resultados para Major congenital malformations
Bayesian networks as a complex system tool in the context of a major industry and university project
Resumo:
The largest Neoarchean gold deposits in the world-class St Ives Goldfield, Western Australia, occur in an area known as the Argo-Junction region (e.g. Junction, Argo and Athena). Why this region is so well endowed with large deposits compared with other parts of the St Ives Goldfield is currently unclear, because gold deposits at St Ives are hosted by a variety of lithologic units and were formed during at least three different deformational events. This paper presents an investigation into the stratigraphic architecture and evolution of the Argo-Junction region to assess its implications for gold metallogenesis. The results show that the region's stratigraphy may be subdivided into five regionally correlatable packages: mafic lavas of the Paringa Basalt; contemporaneously resedimented feldspar-rich pyroclastic debris of the Early Black Flag Group; coarse polymictic volcanic debris of the Late Black Flag Group; thick piles of mafic lavas and sub-volcanic sills of the Athena Basalt and Condenser Dolerite; and the voluminous quartz-rich sedimentary successions of the Early Merougil Group. In the Argo-Junction region, these units have an interpreted maximum thickness of at least 7,130 m, and thus represent an unusually thick accumulation of the Neoarchean volcano-sedimentary successions. It is postulated that major basin-forming structures that were active during deposition and emplacement of the voluminous successions later acted as important conduits during mineralisation. Therefore, a correlation exists between the location of the largest gold deposits in the St Ives Goldfield and the thickest parts of the stratigraphy. Recognition of this association has important implications for camp-scale exploration.
Resumo:
Five significant problems hinder advances in understanding of the volcanology of kimberlites: (1) kimberlite geology is very model driven; (2) a highly genetic terminology drives deposit or facies interpretation; (3) the effects of alteration on preserved depositional textures have been grossly underestimated; (4) the level of understanding of the physical process significance of preserved textures is limited; and, (5) some inferred processes and deposits are not based on actual, modern volcanological processes. These issues need to be addressed in order to advance understanding of kimberlite volcanological pipe forming processes and deposits. The traditional, steep-sided southern African pipe model (Class I) consists of a steep tapering pipe with a deep root zone, a middle diatreme zone and an upper crater zone (if preserved). Each zone is thought to be dominated by distinctive facies, respectively: hypabyssal kimberlite (HK, descriptively called here massive coherent porphyritic kimberlite), tuffisitic kimberlite breccia (TKB, descriptively here called massive, poorly sorted lapilli tuff) and crater zone facies, which include variably bedded pyroclastic kimberlite and resedimented and reworked volcaniclastic kimberlite (RVK). Porphyritic coherent kimberlite may, however, also be emplaced at different levels in the pipe, as later stage intrusions, as well as dykes in the surrounding country rock. The relationship between HK and TKB is not always clear. Sub-terranean fluidisation as an emplacement process is a largely unsubstantiated hypothesis; modern in-vent volcanological processes should initially be considered to explain observed deposits. Crater zone volcaniclastic deposits can occur within the diatreme zone of some pipes, indicating that the pipe was largely empty at the end of the eruption, and subsequently began to fill-in largely through resedimentation and sourcing of pyroclastic deposits from nearby vents. Classes II and III Canadian kimberlite models have a more factual, descriptive basis, but are still inadequately documented given the recency of their discovery. The diversity amongst kimberlite bodies suggests that a three-model classification is an over-simplification. Every kimberlite is altered to varying degrees, which is an intrinsic consequence of the ultrabasic composition of kimberlite and the in-vent context; few preserve original textures. The effects of syn- to post-emplacement alteration on original textures have not been adequately considered to date, and should be back-stripped to identify original textural elements and configurations. Applying sedimentological textural configurations as a guide to emplacement processes would be useful. The traditional terminology has many connotations about spatial position in pipe and of process. Perhaps the traditional terminology can be retained in the industrial situation as a general lithofacies-mining terminological scheme because it is so entrenched. However, for research purposes a more descriptive lithofacies terminology should be adopted to facilitate detailed understanding of deposit characteristics, important variations in these, and the process origins. For example every deposit of TKB is different in componentry, texture, or depositional structure. However, because so many deposits in many different pipes are called TKB, there is an implication that they are all similar and that similar processes were involved, which is far from clear.
Resumo:
The pattern of structural brain alterations associated with major depressive disorder (MDD) remains unresolved. This is in part due to small sample sizes of neuroimaging studies resulting in limited statistical power, disease heterogeneity and the complex interactions between clinical characteristics and brain morphology. To address this, we meta-analyzed three-dimensional brain magnetic resonance imaging data from 1728 MDD patients and 7199 controls from 15 research samples worldwide, to identify subcortical brain volumes that robustly discriminate MDD patients from healthy controls. Relative to controls, patients had significantly lower hippocampal volumes (Cohen’s d=−0.14, % difference=−1.24). This effect was driven by patients with recurrent MDD (Cohen’s d=−0.17, % difference=−1.44), and we detected no differences between first episode patients and controls. Age of onset ⩽21 was associated with a smaller hippocampus (Cohen’s d=−0.20, % difference=−1.85) and a trend toward smaller amygdala (Cohen’s d=−0.11, % difference=−1.23) and larger lateral ventricles (Cohen’s d=0.12, % difference=5.11). Symptom severity at study inclusion was not associated with any regional brain volumes. Sample characteristics such as mean age, proportion of antidepressant users and proportion of remitted patients, and methodological characteristics did not significantly moderate alterations in brain volumes in MDD. Samples with a higher proportion of antipsychotic medication users showed larger caudate volumes in MDD patients compared with controls. This currently largest worldwide effort to identify subcortical brain alterations showed robust smaller hippocampal volumes in MDD patients, moderated by age of onset and first episode versus recurrent episode status.
Resumo:
This thesis developed a thematic structure for evaluating social externalities of major resource projects using a mixed methods approach and structural equation modelling. The implications offer important insights into the extent quality of life is being influenced by coal seam gas projects in regional communities in Southeast Queensland, Australia. Findings show that unresolved concerns of community residents about environmental and social impacts contribute to lower life-satisfaction, inhibit the community to plan for the future, and lead to a weaker local economy.
Resumo:
Using a combination of multivariate statistical techniques and the graphical assessment of major ion ratios, the influences on hydrochemical variability of coal seam gas (or coal bed methane) groundwaters from several sites in the Surat and Clarence-Moreton basins in Queensland, Australia, were investigated. Several characteristic relationships between major ions were observed: 1) strong positive linear correlation between the Na/Cl and alkalinity/Cl ratios; 2) an exponentially decaying trend between the Na/Cl and Na/alkalinity ratios; 3) inverse linear relationships between increasing chloride concentrations and decreasing pH for high salinity groundwaters, and; 4) high residual alkalinity for lower salinity waters, and an inverse relationship between decreasing residual alkalinity and increasing chloride concentrations for more saline waters. The interpretation of the hydrochemical data provides invaluable insights into the hydrochemical evolution of coal seam gas (CSG) groundwaters that considers both the source of major ions in coals and the influence of microbial activity. Elevated chloride and sodium concentrations in more saline groundwaters appear to be influenced by organic-bound chlorine held in the coal matrix; a sodium and chloride ion source that has largely been neglected in previous CSG groundwater studies. However, contrastingly high concentrations of bicarbonate in low salinity waters could not be explained, and are possibly associated with a number of different factors such as coal degradation, methanogenic processes, the evolution of high-bicarbonate NaHCO3 water types earlier on in the evolutionary pathway, and variability in gas reservoir characteristics. Using recently published data for CSG groundwaters in different basins, the characteristic major ion relationships identified for new data presented in this study were also observed in other CSG groundwaters from Australia, as well as for those in the Illinois Basin in the USA. This observation suggests that where coal maceral content and the dominant methanogenic pathway are similar, and where organic-bound chlorine is relatively abundant, distinct hydrochemical responses may be observed. Comparisons with published data of other NaHCO3 water types in non-CSG environments suggest that these characteristic major ion relationships described here can: i) serve as an indicator of potential CSG groundwaters in certain coal-bearing aquifers that contain methane; and ii) help in the development of strategic sampling programmes for CSG exploration and to monitor potential impacts of CSG activities on groundwater resources.
Resumo:
In this paper, we detail the development of two stakeholder relationships scales. The scales measure major project managers' perceived competence in developing (establishing and maintaining) high quality, effective relationships with stakeholders who are internal and external to their organization. Our sample consists of 373 major project managers from a sub-set of the Australian defense industry. Both the internal stakeholder relationships scale and the external stakeholder relationships scale demonstrated validity and reliability. This research has implications for the interpersonal work relationships literature and the stakeholder management literature. We recommend that researchers test these scales with multiple samples, across different project types and project industries in the future. The stakeholder relationship scales should be versatile enough to be applied to project management generally but are perhaps best suited to major project environments.
Resumo:
Despite the plethora of literature examining higher education students’ motivation to learn a second language, it is not known if students who choose to study English as their major differ from those who are required to study English as the minor component of their wider degree. Drawing on self-determination theory, this paper reports on the findings of a quantitative study designed to investigate the types of motivation demonstrated by English major (n=180) and non-English major students (n=242), and their levels of effort expended in learning English in a Vietnamese university. The findings revealed that both groups demonstrated high levels of motivation to learn English to prepare for their future profession. English major students felt more intrinsically motivated and less obligated to learn English. In addition, for both groups, intrinsically motivated students invested the highest levels of effort in learning English. This paper argues that it is imperative for lecturers to foster students’ intrinsic aspirations to learn English to improve the quality of the teaching and learning of English in Vietnamese higher education.
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With the level of urbanization in China now exceeding 50%, its collective rural land system is under increasing pressure, creating conditions in which there is increasing conflict between the efficient use of land for agricultural purposes and its retention as security for the rural population. This paper first examines the fundamental nature of China's collective land system by analyzing the collectivization history of China, then provides a comprehensive appraisal of the strengths and weaknesses of the collective land system's role in history and the challenges it faces in modern times. The main changes needed for the current collective system are identified as (1) the establishment of a new transfer mechanism for potential collective construction land, (2) the completion of land rights verification and consolidation work, and (3) the endowment of villagers with more rights to enjoy the distribution of land incremental value. The paper's main contribution is to question the relevance of collective rural land system in contemporary China, where a shift is now taking place from one of pure economic development to one involving more social concerns, and propose potential viable amendments to integrate the need for both perspectives.
Resumo:
Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.
Resumo:
Objective. To identify genomic regions linked with determinants of age at symptom onset, disease activity, and functional impairment in ankylosing spondylitis (AS). Methods. A whole genome linkage scan was performed in 188 affected sibling pair families with 454 affected individuals. Traits assessed were age at symptom onset, disease activity assessed by the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and functional impairment assessed by the Bath Ankylosing Spondylitis Functional Index (BASFI). Parametric and nonparametric quantitative linkage analysis was performed using parameters defined in a previous segregation study. Results. Heritabilities of the traits studied in this data set were as follows: BASDAI 0.49 (P = 0.0001, 95% confidence interval [95% CI] 0.23-0.75), BASFI 0.76 (P = 10-7, 95% CI 0.49-1.0), and age at symptom onset 0.33 (P = 0.005, 95% CI 0.04-0.62). No linkage was observed between the major histocompatibility complex (MHC) and any of the traits studied (logarithm of odds [LOD] score <1.0). "Significant" linkage (LOD score 4.0) was observed between a region on chromosome 18p and the BASDAI. Age at symptom onset showed "suggestive" linkage to chromosome 11p (LOD score 3.3). Maximum linkage with the BASFI was seen at chromosome 2q (LOD score 2.9). Conclusion. In contrast to the genetic determinants of susceptibility to AS, clinical manifestations of the disease measured by the BASDAI, BASFI, and age at symptom onset are largely determined by a small number of genes not encoded within the MHC.
Resumo:
Objective. We have previously identified a single-nucleotide polymorphism (SNP) haplotype involving the lymphotoxin α (LTA) and tumor necrosis factor (TNF) loci (termed haplotype LTA-TNF2) on chromosome 6 that shows differential association with rheumatoid arthritis (RA) on HLA-DRB1*0404 and *0401 haplotypes, suggesting the presence of additional non-HLA-DRB1 RA susceptibility genes on these haplotypes. To refine this association, we performed a case-control association study using both SNPs and microsatellite markers in haplotypes matched either for HLA-DRB1*0404 or for HLA-DRB1*0401. Methods. Fourteen SNPs lying between HLA-DRB1 and LTA were genotyped in 87 DRB1*04-positive families. High-density microsatellite typing was performed using 24 markers spanning 2,500 kb centered around the TNF gene in 305 DRB1*0401 or *0404 cases and 400 DRB1*0401 or *0404 controls. Single-marker, 2-marker, and 3-marker minihaplotypes were constructed and their frequencies compared between the DRB1*0401 and DRB1*0404 matched case and control haplotypes. Results. Marked preservation of major histocompatibility complex haplotypes was seen, with chromosomes carrying LTA-TNF2 and either DRB1*0401 or DRB1*0404 both carrying an identical SNP haplotype across the 1-Mb region between TNF and HLA-DRB1. Using microsatellite markers, we observed two 3-marker minihaplotypes that were significantly overrepresented in the DRB1*0404 case haplotypes (P = 0.00024 and P = 0.00097). Conclusion. The presence of a single extended SNP haplotype between LTA-TNF2 and both DRB1*0401 and DRB1*0404 is evidence against this region harboring the genetic effects in linkage disequillbrium with LTA-TNF2. Two RA-associated haplotypes on the background of DRB1*0404 were identified in a 126-kb region surrounding and centromeric to the TNF locus.
Resumo:
There is strong evidence from twin and family studies indicating that a substantial proportion of the heritability of susceptibility to ankylosing spondylitis (AS) and its clinical manifestations is encoded by non-major-histocompatibility-complex genes. Efforts to identify these genes have included genomewide linkage studies and candidate gene association studies. One region, the interleukin (IL)-1 gene complex on chromosome 2, has been repeatedly associated with AS in both Caucasians and Asians. It is likely that more than one gene in this complex is involved in AS, with the strongest evidence to date implicating IL-1A. Identifying the genes underlying other linkage regions has been difficult due to the lack of obvious candidates and the low power of most studies to date to identify genes of the small to moderate magnitude that are likely to be involved. The field is moving towards genomewide association analysis, involving much larger datasets of unrelated cases and controls. Early successes using this approach in other diseases indicates that it is likely to identify genes in common diseases like AS, but there remains the risk that the common-variant, common-disease hypothesis will not hold true in AS. Nonetheless, it is appropriate for the field to be cautiously optimistic that the next few years will bring great advances in our understanding of the genetics of this condition.
Resumo:
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G>A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. Here we describe a novel c.587 T>C mutation in the glycine/serine-rich domain of ACVR1, associated with delayed onset of heterotopic ossification and an exceptionally mild clinical course. Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral camptodactyly of the 5th fingers, together with a novel ACVR1 mutation, are consistent with the 'FOP-variant' syndrome. The c.587 T>C mutation replaces a conserved leucine with proline at residue 196. Modelling of the mutant protein reveals a steric clash with the kinase domain that will weaken interactions with FKBP12 and induce exposure of the glycine/serine-rich repeat. The mutant receptor is predicted to be hypersensitive to ligand stimulation rather than being constitutively active, consistent with the mild clinical phenotype. This case extends our understanding of the 'FOP-variant' syndrome.